Canonical Allele Identifier: CA360758146

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671260T>G (hg19) ; chr5:g.128335568T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335568T>G , CM000667.2:g.128335568T>G	GRCh38
NC_000005.9:g.127671260T>G , CM000667.1:g.127671260T>G	GRCh37
NC_000005.8:g.127699159T>G	NCBI36
NG_008750.1:g.207476A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.518A>C
ENST00000703785.1:n.599A>C
ENST00000262464.9:c.3734A>C MANE Select	ENSP00000262464.4:p.Glu1245Ala
ENST00000262464.8:c.3734A>C	ENSP00000262464.4:p.Glu1245Ala
ENST00000507835.5:c.284A>C	ENSP00000426839.1:p.Glu95Ala
ENST00000508053.5:c.3734A>C	ENSP00000424571.1:p.Glu1245Ala
ENST00000508989.5:c.3635A>C	ENSP00000425596.1:p.Glu1212Ala
ENST00000619499.4:c.3731A>C	ENSP00000482132.1:p.Glu1244Ala
NM_001999.3:c.3734A>C	NP_001990.2:p.Glu1245Ala
XM_017009228.2:c.3581A>C	XP_016864717.1:p.Glu1194Ala
NM_001999.4:c.3734A>C MANE Select	NP_001990.2:p.Glu1245Ala